Sunday, January 21, 2007

November 25, 2005: In early September of 2005, Mira had gone through a series of vaccinations during a routine three month visit to her pediatrician. Soon after that, Mira stopped smiling and became very distant and irritable. Randomly, one afternoon a week or so later, Mira began having what at first appeared to be a ‘startle’ reaction upon waking up from one of her naps. My wife first noticed her doing it on a Wednesday afternoon, just once. On Thursday, in the late afternoon, she witnessed a single jerk again. Upon coming home from work, I too witnessed it first hand and we both became very, very concerned. We immediately took her to Children’s Mercy to the ER. After visiting the triage nurse in the ER, Mira began to have another episode in the waiting room. Each episode was more intense and longer than the one prior. She kept consistently repeating the same motion every 10 or 15 seconds, with each episode lasting 4 or 5 minutes. We knew there was something terribly wrong. Her eyes would roll up and down very quickly in unison and her arms would extend in a forward motion, each motion/eye movement lasting 3 or 4 seconds. What first started as a single spasm soon became a series of spasms, lasting minutes instead of seconds.

We were immediately brought back into the ER where she was monitored and had blood drawn. After another episode (this one witnessed by the medical staff in the ER) she was admitted to the hospital to see a neurologist in the morning. Over a period of six or seven hours that night, Mira had consistent episodes every hour to two hours, with the same eye movement and arm extensions. Friday morning, we spoke with a neurologist, who also witnessed her having an episode. He recommended an EEG and a MRI, along with a series of blood draws.While her MRI came back completely normal, her EEG showed 'modified hypsarrhythmia', a chaotic brainwave pattern of slow/fast spike waves. Upon seeing this, our neurologist diagnosed Mira with having Infantile Spasms. We had never heard of such a disorder and at the time, really didn’t quite comprehend the severity of her diagnosis.

Mira spent four days in the hospital. She was given a large dosage of Ativan on Friday morning to control the spasms and then put on Phenobarbital within a few days. Along with a sedative given during the MRI, Mira seemed to be very tired over the next few days and her seizure activity was non-existent. Within four or five days of being on Phenobarbital, her seizure activity slowly resurfaced.

After an increased dosage of Phenobarbital failed to stop the spasms, the recommendation was to start a four week regiment of ACTH. Since her diagnosis, the lowest point for us as parents had to have been the first week of starting the ACTH. Mira became extremely irritable soon after her first injection, having periods of time where she was inconsolable. At one point, she would alternate periods of screaming and sleeping every 45 minutes, for an entire weekend.After the ACTH proved ineffective, she was put of Depakene. By this time, Mira had gone through three EEGs, weekly monitoring of her vitals, and what seemed like a constant battery of blood work every week to rule out other metabolic disorders. During her last EEG, Mira was given a large dosage of Pyrodoxine (B6) in an effort to see if it would have any effect on ‘normalizing’ the hypsarrhythmia. After Depakene and Pyrodoxine treatments proved ineffective, Mira was put on another medication.

Nearly two months after Mira’s ordeal started, she was placed on Zonegran, her fourth medication. She initially became very irritable when first starting Zonegran at 25mg/day but seems to have adjusted to it after a week or so. She currently is at 100mg/day and will be until our next consult with her neurologist at the end of November. She is scheduled for her fifth EEG in the middle of December. We are working with an OT at home, every other week, to help Mira develop motor skills. The past few weeks, since Mira has been on Zonegran, her mood and engagement have been much improved. While the seizure activity still exists, her spasms are limited to one or two single spasms, instead of 10-20 spasms per episode.

Update: December 15, 2005: Mira had her fifth EEG and it came back the same as the others. There has been little or no change in regards to her EEG since her spasms started. She is still having spasms, although they have slowed in terms of frequency and intensity since being on Zonegran. Her neurologist recommended reducing her dosage of Zonegran to 100mg/day and starting her on a dosage of .3/ml of Klonopin twice a day. Overall, she seems to be smiling more and engaging slightly better than in past weeks. Mira has been working with at OT every other week for an hour to work on her mobility. She will have another EEG and an ophthalmology consult in January.

Update: January 17, 2006: We had a second consult with another pediatric neurologist, which was very beneficial in understanding where we are in this entire process. Mira's seizures have not changed in intensity or frequency since the beginning of December. She is currently on 100mg Zonegran (she will begin to wean soon) .25ml/3xs daily of Klonopin (she is already weaning), 45mg of Topomax, and the B6. Her EEG this week came back the same as the others, with only a slight overall improvement since the spasms started in September. She started a low dosage of Topomax last week and will continue to reach a therapeutic level over the next few weeks. If Topomax does not work, we will add Keppra to that. If Keppra does not work, we will try Vigabatrin. Vigabatrin will require monitoring and establishing a baseline to work from in terms of visual loss, which will have to be done at Washington University in Saint Louis. Thanks to everyone for all of your thoughts and prayers. We will post again in a few weeks after the Topomax has settled in.

Update: March 9, 2006: Mira saw another neurologist and had another EEG at WUSTL last week. Her EEG was unchanged from the last one. We are now in the process of weaning Keppra and will start to wean the Topomax after that. Both medications seemed to do very little in terms of seizure control. Mira will start taking Vigabatrin within the next few weeks. We are looking into the Ketogenic Diet next. She continues to see an OT and a vision specialist every week at home. Her seizure activity has been pretty much the same since last November and we have only seen some very slight improvement in vision/eye contact.

Update: March 24, 2006: Mira started Vigabatrin this week. We hope that this is the miracle medication for her because we are pretty much out of options for her at this point. She is completely off of Keppra and will be off of Topamax within the week. She continues to have single spasms througout the day. We have an ERG scheduled at the end of April, to monitor her vision while on the Vigabatrin. We are looking into the Ketogenic Diet for her as well.

Update: April 12, 2006: Since starting the Vigabatrin, Mira has been focusing better and is starting to show more interest in some of her toys and other objects. She is also starting to take some interest in her hands, possibly to feel her two teeth that have recently popped in! Her seizure activity has decreased slightly, yet she is still having a dozen or so single spasms throughout the day, from what we can see on the surface. She will be increasing the Vigabatrin (she is currently at around 50mg/kg) for several more weeks, if need be. Mira is receiving OT and vision therapy every week now. She will also be seeing a developmental pediatrician within the next few weeks. Thanks to everyone for all of your thoughts and prayers.

Update: April 28, 2006: Mira's genetic testing results all came back normal. We are awaiting results from her ERG performed this week in Saint Louis. She is currently on 65mg/kg of Vigabatrin and will begin weaning Zonegran today. She has been on it for five months, with little or no effect on her EEG activity or seizure control. She turned 10 months old today and it has been over seven months since she was diagnosed.

Update: May 25, 2006: We had a meeting with a developmental pediatrician last week, who placed Mira at about a 3-4 month old, globally. In some areas, developmentally, she is about at a one month old, but in others, a four to five month old. Overall, she is significantly delayed. Mira had another MRI this week, which she had not had since her diagnosis, about eight months ago. The results were normal. Since she is almost at a maximum dosage on the Vigabatrin, she had an EEG yesterday, which came back unchanged. She is still having 10-15 visible seizures per day and her EEG is unchanged, but she is developing, very slowly it seems. She also had an ERG in Saint Louis to begin monitoring her vision while on the Vigabatrin. The results for that were also normal. The really positive news in all of this is that she started rolling over! She is also engaging and laughing more, which could be attributed to her weekly vision therapy, OT, or the medication or all of the above. We are not really sure, but having her engage more with us is wonderful.

Update: June 1, 2006: Mira has hit a near maximum dosage and the Vigabatrin and since it has had no clinical affect on her EEG, the hypsarrythmia, or her seizures. With each increase in dosage over the past few weeks, she has become increasingly irritable and now is suffering from insomnia. She is up in the middle of the night for hours, simply fidgeting and fussing. She is extremely restless and her seizures are unrelenting. Therefore, we are in the process of weaning her off of the Vigabatrin now.

Update: June 26, 2006: For the first time since her diagnosis, Mira is medication free. She will have a feeding evaluation the first week in July. After that, she will start the Ketogenic Diet. We are very optimistic about starting her on something that is non-toxic. Mira will also begin PT and feeding therapy within the next month, along with her weekly vision therapy and OT. We will update her progress while on the diet.

Update: August 1, 2006: Mira could not be admitted for the Ketogenic Diet, due to complications with her beta-hydroxybutyrate levels. She was basically in ketosis before she started the diet. We are still trying to determine why her levels are elevated and why other recent screens are coming back elevated. Mira has been medication free for over a month. Unfortunately, her seizures still persist. She will attending the Britain Center starting in the middle of August, where she will have weekly OT, PT, feeding, water therapy, and she will continue to have vision therapy through CCVI. She will have a spinal tap and some additional metabolic screens next month, in an effort to rule out any other remote deficiencies/disorders.

Update: September 29, 2006: Mira had a lumbar puncture and a MRS (MRI with Spectroscopy) this past week. We should get the results from the LP in around a month, but the MRS should come back next week. Mira continues to make positive strides, beginning to grab and hold onto toys, and becoming more vocal, thanks to her therapies. The Britain Center is a great fit for her. She is still medication free and while her seizures stll persist, she is doing wonderfully.

Update: December 12, 2006: It has been nearly 5 months since we took Mira off of medications and her situation has not changed much. She is still having daily seizures - some days are better than others for her. She has numerous teeth coming in and her seizure activity seems to spike when her teeth are bothering her. On a positive note, she continues to make slow and steady progress in terms of feeding and trunk control. The seizures and twitching really seem to take a toll on her throughout the day, making her restless and irritable. Mira had an EEG about a week ago (the last one was in May) which we are awaiting the results on. We are 'revisiting' the B6 issue by giving her 100mg daily to see if it will help.

Update: January 2, 2007: The root of Mira's ongoing seizures remains a mystery still. Her last EEG came back exactly the same as the others. We have decided to try medications again, starting her on Oxcarbazepine (Trileptal) this week. She will continue to take 100mg of B6 as well.

Update: February 06, 2007: The Trileptal is not working for Mira so she will wean it over the next few weeks and begin taking Acetazolamide (Diamox) to see if it will help her.

Update: February 28, 2007: The Diamox offered up some bad side effects for Mira. She became lethargic, very floppy, and irritable, after going up to a higher dosage. On top of it, her seizures became worse. She will wean off of it over the next few days and start taking Felbatol.

Mira's Videos

Mira's Brief Story

Mira was diagnosed with Infantile Spasms (I.S.) in September 2005. Since her diagnosis is part of larger picture of issues, including developmental delay, and hypsarrhythmia, Mira was originally diagnosed with West Syndrome.

Hypsarrhythmia represents a completely chaotic and disorganized EEG background pattern consisting of high amplitude slow waves and spikes that are asynchronous, non-rhythmic, and variable in duration. The common combination of seizures/spasms, developmental delay, and hypsarrhythmia constitutes the form of infantile epilepsy, West syndrome.

Since Mira has what is described as a catastrophic epilepsy and has multiple seizure types, she has also been diagnosed with Atypical Dravet Syndrome (SMEI), Lennox-Gastaut Syndrome (LGS), and at even Atypical Rett Syndrome. While a host of early genetic testing failed to find a typical mutation, deletion, or mosaicism in the typical genetic markers for these syndromes, it does not rule out other possible associated genetic markers that have yet to be discovered. Mira has also been tested for a series of other random genetic syndromes, through partial genome sequencing and a few individual microarrays.

Mira has tried nearly every anti-seizure medication, finding brief 'success' with Lyrica, her 14th medication. Mira was seizure free* for about 6 months in late 2007 and into early 2008.

*(Her EEG never improved during this period, which means that she was still clinically having seizures and that the Lyrica was simply masking the symptoms. Visible seizures slowly surfaced after about 5 1/2 months of being on Lyrica.)

She received weekly OT/PT, vision, feeding, aqua, and group therapy up until 2011. She now receives PT/OT and other therapies through the school district. Mira also did hippotherapy for the summer in 2008 as well.